Incidental Mutation 'R6941:Ddx27'
ID 540528
Institutional Source Beutler Lab
Gene Symbol Ddx27
Ensembl Gene ENSMUSG00000017999
Gene Name DEAD box helicase 27
Synonyms DEAD (Asp-Glu-Ala-Asp) box polypeptide 27
MMRRC Submission 045055-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R6941 (G1)
Quality Score 181.009
Status Not validated
Chromosome 2
Chromosomal Location 166857233-166876865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 166857297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 15 (D15G)
Ref Sequence ENSEMBL: ENSMUSP00000135265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018143] [ENSMUST00000150571] [ENSMUST00000176066]
AlphaFold Q921N6
Predicted Effect probably benign
Transcript: ENSMUST00000018143
AA Change: D15G

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000018143
Gene: ENSMUSG00000017999
AA Change: D15G

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
coiled coil region 78 106 N/A INTRINSIC
low complexity region 133 148 N/A INTRINSIC
low complexity region 157 166 N/A INTRINSIC
DEXDc 203 404 2.24e-56 SMART
HELICc 443 524 1.71e-29 SMART
coiled coil region 577 613 N/A INTRINSIC
low complexity region 622 629 N/A INTRINSIC
low complexity region 644 657 N/A INTRINSIC
low complexity region 679 692 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000150571
AA Change: D15G

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135265
Gene: ENSMUSG00000017999
AA Change: D15G

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
coiled coil region 78 106 N/A INTRINSIC
low complexity region 133 148 N/A INTRINSIC
low complexity region 157 166 N/A INTRINSIC
Pfam:DEAD 208 292 2e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000176066
AA Change: D15G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135815
Gene: ENSMUSG00000017999
AA Change: D15G

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
coiled coil region 78 106 N/A INTRINSIC
low complexity region 133 148 N/A INTRINSIC
low complexity region 157 166 N/A INTRINSIC
low complexity region 171 198 N/A INTRINSIC
Pfam:DEAD 236 309 1e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein involved in the processing of 5.8S and 28S ribosomal RNAs. More specifically, the encoded protein localizes to the nucleolus, where it interacts with the PeBoW complex to ensure proper 3' end formation of 47S rRNA. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,140,370 (GRCm39) I1557F probably damaging Het
Acad10 A T 5: 121,787,420 (GRCm39) D176E probably damaging Het
Acta2 A T 19: 34,229,922 (GRCm39) V11E probably damaging Het
Ampd2 T C 3: 107,986,609 (GRCm39) H225R probably damaging Het
Arfgef3 A G 10: 18,501,203 (GRCm39) Y1016H possibly damaging Het
Atg7 C T 6: 114,650,639 (GRCm39) T83M possibly damaging Het
AU018091 A G 7: 3,209,267 (GRCm39) probably null Het
Birc2 A G 9: 7,819,469 (GRCm39) V481A probably benign Het
Cabp1 A T 5: 115,310,960 (GRCm39) D295E probably damaging Het
Cd180 A T 13: 102,842,699 (GRCm39) T582S probably benign Het
Cnksr3 A G 10: 7,076,758 (GRCm39) S145P probably damaging Het
Dsc1 T C 18: 20,230,246 (GRCm39) Y353C probably benign Het
Dsg1c C T 18: 20,400,980 (GRCm39) T161I probably damaging Het
Epm2a A G 10: 11,266,829 (GRCm39) probably null Het
Fat2 T C 11: 55,152,914 (GRCm39) H3766R probably benign Het
Fjx1 A G 2: 102,280,903 (GRCm39) V344A probably benign Het
Frmd3 A G 4: 74,016,363 (GRCm39) I93V probably benign Het
Gbe1 TAGTAAGAGT TAGT 16: 70,230,444 (GRCm39) probably benign Het
Gdf15 A G 8: 71,082,794 (GRCm39) L104P possibly damaging Het
Glra3 G A 8: 56,393,961 (GRCm39) R24Q probably benign Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
Ighv1-9 A T 12: 114,547,448 (GRCm39) M31K probably benign Het
Ipmk G A 10: 71,183,920 (GRCm39) G47S probably null Het
Itsn2 T C 12: 4,679,641 (GRCm39) I150T probably benign Het
Kcnq5 T C 1: 21,476,068 (GRCm39) Y545C probably damaging Het
Klk1b8 C A 7: 43,602,213 (GRCm39) H48Q possibly damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrrc34 T C 3: 30,678,969 (GRCm39) Y376C probably benign Het
Mast4 A T 13: 102,941,222 (GRCm39) D278E probably damaging Het
Mtmr3 T C 11: 4,437,505 (GRCm39) Y982C possibly damaging Het
Ndst4 T G 3: 125,403,160 (GRCm39) H422Q possibly damaging Het
Nek7 T C 1: 138,430,376 (GRCm39) E206G probably damaging Het
Nufip2 CCAGCAGCAGCAGCAGCAGCAG CCAGCAGCAGCAGCAGCAG 11: 77,577,122 (GRCm39) probably benign Het
Or5b99 T A 19: 12,976,861 (GRCm39) N170K possibly damaging Het
Pglyrp2 T C 17: 32,635,048 (GRCm39) Y438C probably damaging Het
Pigr G T 1: 130,775,064 (GRCm39) W497L probably damaging Het
Pkd2l2 G T 18: 34,549,936 (GRCm39) V194L probably benign Het
Ppp1r16b A T 2: 158,538,068 (GRCm39) K5M probably damaging Het
Psat1 A T 19: 15,898,307 (GRCm39) S35R probably damaging Het
Qrfprl G A 6: 65,424,385 (GRCm39) M126I probably damaging Het
Rab11fip1 G A 8: 27,646,303 (GRCm39) Q258* probably null Het
Rad51d A G 11: 82,780,623 (GRCm39) L53P probably damaging Het
Rell2 G A 18: 38,091,341 (GRCm39) A169T probably benign Het
Rnf19b T C 4: 128,976,572 (GRCm39) I545T probably benign Het
Slc12a1 G T 2: 125,055,999 (GRCm39) E843D possibly damaging Het
Slc1a4 A G 11: 20,254,346 (GRCm39) S507P probably damaging Het
Slc6a1 G A 6: 114,290,473 (GRCm39) W316* probably null Het
Spesp1 A G 9: 62,180,152 (GRCm39) L252P probably damaging Het
Sphkap G A 1: 83,385,811 (GRCm39) probably benign Het
Srcap A G 7: 127,141,769 (GRCm39) T1850A probably damaging Het
Supv3l1 T C 10: 62,266,365 (GRCm39) T604A possibly damaging Het
Tacr1 A G 6: 82,380,846 (GRCm39) T86A possibly damaging Het
Tenm3 T C 8: 49,127,451 (GRCm39) R76G probably damaging Het
Tmprss6 C A 15: 78,330,977 (GRCm39) A419S probably damaging Het
Usp54 T G 14: 20,612,177 (GRCm39) I880L probably benign Het
Wwp2 T A 8: 108,275,134 (GRCm39) V377D probably damaging Het
Zfp735 A T 11: 73,581,159 (GRCm39) E65D probably benign Het
Zfy2 T C Y: 2,121,491 (GRCm39) E134G probably benign Het
Other mutations in Ddx27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00656:Ddx27 APN 2 166,861,886 (GRCm39) missense probably benign 0.00
IGL01610:Ddx27 APN 2 166,863,964 (GRCm39) splice site probably benign
IGL01724:Ddx27 APN 2 166,870,309 (GRCm39) missense probably damaging 1.00
IGL02035:Ddx27 APN 2 166,871,432 (GRCm39) missense probably benign 0.00
IGL02141:Ddx27 APN 2 166,862,443 (GRCm39) missense possibly damaging 0.67
IGL02402:Ddx27 APN 2 166,857,245 (GRCm39) utr 5 prime probably benign
IGL02600:Ddx27 APN 2 166,868,124 (GRCm39) missense probably damaging 1.00
IGL02882:Ddx27 APN 2 166,869,833 (GRCm39) missense possibly damaging 0.86
IGL03177:Ddx27 APN 2 166,869,840 (GRCm39) missense possibly damaging 0.76
R1938:Ddx27 UTSW 2 166,876,029 (GRCm39) missense probably damaging 1.00
R2020:Ddx27 UTSW 2 166,875,691 (GRCm39) missense probably damaging 1.00
R2038:Ddx27 UTSW 2 166,875,675 (GRCm39) missense probably damaging 1.00
R2116:Ddx27 UTSW 2 166,869,684 (GRCm39) missense probably benign 0.23
R3103:Ddx27 UTSW 2 166,868,166 (GRCm39) missense probably damaging 1.00
R4524:Ddx27 UTSW 2 166,869,640 (GRCm39) nonsense probably null
R4586:Ddx27 UTSW 2 166,861,904 (GRCm39) missense probably benign 0.00
R4737:Ddx27 UTSW 2 166,871,219 (GRCm39) missense probably benign 0.37
R5350:Ddx27 UTSW 2 166,869,780 (GRCm39) unclassified probably benign
R5568:Ddx27 UTSW 2 166,871,439 (GRCm39) missense possibly damaging 0.78
R5573:Ddx27 UTSW 2 166,859,806 (GRCm39) missense possibly damaging 0.87
R5606:Ddx27 UTSW 2 166,861,886 (GRCm39) missense probably benign 0.00
R6026:Ddx27 UTSW 2 166,875,560 (GRCm39) missense probably benign 0.00
R6699:Ddx27 UTSW 2 166,862,423 (GRCm39) missense possibly damaging 0.92
R6845:Ddx27 UTSW 2 166,864,016 (GRCm39) missense probably damaging 1.00
R7352:Ddx27 UTSW 2 166,871,433 (GRCm39) missense probably benign 0.03
R7765:Ddx27 UTSW 2 166,869,879 (GRCm39) missense probably damaging 1.00
R8795:Ddx27 UTSW 2 166,859,730 (GRCm39) missense probably benign 0.01
R9220:Ddx27 UTSW 2 166,871,433 (GRCm39) missense probably benign 0.03
R9347:Ddx27 UTSW 2 166,861,950 (GRCm39) missense possibly damaging 0.91
Z1177:Ddx27 UTSW 2 166,875,761 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTATTGGAAACCACGCAGGCC -3'
(R):5'- AAGCAAGACTGACTTCGCCTG -3'

Sequencing Primer
(F):5'- CCGCGAAGTCTCAAAGTGC -3'
(R):5'- TCGCCTGCGAAGTTCGACTC -3'
Posted On 2018-11-06